ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2314_2315del (p.Ile772fs)

dbSNP: rs2103774725
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Palindrome, Gene Kavoshgaran Aria RCV002221993 SCV002499446 pathogenic Alstrom syndrome 2022-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002221993 SCV003524777 pathogenic Alstrom syndrome 2023-10-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile773Phefs*13) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Alström syndrome (PMID: 25296579, 29193673). ClinVar contains an entry for this variant (Variation ID: 1676680). For these reasons, this variant has been classified as Pathogenic.

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